rs3736309
A SNP in the LOC101927318 gene on chromosome 12. Its most notable genotype is A;G: 0.44x decreased risk for chronic obstructive pulmonary lung disease
- Gene
- LOC101927318
- Location
- Chr 1249,964,271 (GRCh38)
- Highest magnitude
- 2.0Worth knowing
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 16%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;ANot ratednormal
- A;GMost notableGood0.44x decreased risk for chronic obstructive pulmonary lung disease
- G;GGood0.44x decreased risk for chronic obstructive pulmonary lung disease
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 10 HapMap populations.
- AverageA;A 71% A;G 24% G;G 5%
- European ancestry (Utah)A;A 78% A;G 20% G;G 3%
- Han Chinese (Beijing)A;A 38% A;G 49% G;G 13%
- Japanese (Tokyo)A;A 50% A;G 36% G;G 13%
- African ancestry (Southwest US)A;A 93% A;G 7% G;G 0%
- Chinese (Denver)A;A 38% A;G 45% G;G 17%
- Gujarati IndianA;A 58% A;G 41% G;G 1%
- Luhya (Kenya)A;A 99% A;G <1% G;G 0%
- Mexican ancestry (Los Angeles)A;A 83% A;G 17% G;G 0%
- Maasai (Kenya)A;A 97% A;G 3% G;G 0%
- TuscanA;A 77% A;G 22% G;G 2%
Related
Conditions, medicines and genes
Other LOC101927318 SNPs
Notes
From SNPedia
Notes
rs3736309 is a SNP in the aquaporin 5 (AQP5) gene. Among other roles, the aquaporin proteins play a critical role in the maintenance of normal lung water homeostasis. A study of 332 Chinese Han Chronic obstructive pulmonary disease (COPD) patients and 373 unrelated, age-matched controls concluded that carriers of a rs3736309(G) allele had a lower risk of COPD than rs3736309(A;A) carriers, with an odds ratio of 0.44 (CI: 0.307-0.631).
Source and license
Adapted from rs3736309 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.